| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3165T>G | p.Cys1055Trp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGT | Cys | TGG | Trp | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #11 | Disulfide bonds 1055-1068 (C5) | No | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 0.00 (pathogenous) | 100 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0034 I2115 | Proband | Male | de novo | at birth | 62 hours of life | BELGIUM |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | |
| C-Asc. aortic dilatation | moderate |
| C-Cardiac malformation | Atrial septal defect |
| C-Mitral valve prolapse | |
| C-Tricuspid valve prolapse | |
| CF-Down-slanting palpebral fissures | |
| CF-Retrognathia | micro |
| L-Hemidiaphragm eventration | |
| S-Arachnodactyly (M) | |
| S-Camptodactyly | |
| S-Crumpled ears | |
| S-Foot deformity | |
| S-High arched palate | |
| S-Increased body length | |
| S-Joint limitations | |
| S-Muscular hypotonia | |
| S-Scoliosis > 20° (M)(1) | |
| S-Scoliosis > 20° (M)(1) | mild |
| SI-Loose, redundant skin |
| Reference ID | PubMed ID | Reference |
| 115 | 14586646 | Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. "Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature". Eur J Pediatr. 2004 Jan;163(1):33-7. |